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American Journal of Medical Genetics|October 1, 1985
A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseasesA M Yeager, H S Singer, J R Buck, et al.Acta Ophthalmologica|February 1, 1993
Elevated serum sialic acid in idiopathic acute iridocyclitisS Lam, H H Tessler, M D Farber, et al.Journal of Neuroscience Research|September 11, 2001
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD geneS Surendran, K A Sacksteder, S J Gould, et al.The Journal of Biological Chemistry|April 28, 1995
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiencyH Ichinose, T Ohye, Y Matsuda, et al.American Journal of Medical Genetics|May 2, 1997
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndromeM Jaquez, D A Driscoll, M Li, et al.American Journal of Medical Genetics|March 3, 1997
Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelaeB Rouse, C Azen, R Koch, et al.European Journal of Clinical Nutrition|August 3, 2017
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acidsD Concolino, I Mascaro, M T Moricca, et al.European Journal of Pediatrics|July 1, 1996
The International Collaborative Study on maternal phenylketonuria: organization, study design and description of the sampleE G Friedman, R Koch, C Azen, et al.European Journal of Clinical Nutrition|September 15, 2016
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acidsD Concolino, I Mascaro, M T Moricca, et al.American Journal of Human Genetics|July 1, 1996
Identification and expression of eight novel mutations among non-Jewish patients with Canavan diseaseR Kaul, G P Gao, R Matalon, et al.Pageof 12